Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Maternally inherited mitochondrial myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Maternally inherited mitochondrial cardiomyopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
3 |
Mitochondrial respiratory chain complex I structural subunit gene defect |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Mitochondrial respiratory chain complex I assembly gene defect |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Typical nemaline myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Childhood-onset nemaline myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Actin accumulation myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Amish nemaline myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Intermediate nemaline myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Severe congenital nemaline myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Lethal neonatal spasticity, epileptic encephalopathy syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Proximal myopathy with focal depletion of mitochondria |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Autosomal recessive central core disease |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Autosomal dominant central core disease |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Congenital fibre-type disproportion myopathy due to ZAK mutation |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Congenital fibre-type disproportion myopathy due to SELENON mutation |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Autosomal recessive congenital fibre-type disproportion myopathy due to SELENON mutation |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Congenital fibre-type disproportion myopathy due to ACTA1 mutation |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Congenital fibre-type disproportion myopathy due to TPM3 mutation |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Autosomal recessive congenital fibre-type disproportion myopathy due to TPM3 mutation |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Autosomal dominant congenital fibre-type disproportion myopathy due to TPM3 mutation |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Congenital fibre-type disproportion myopathy due to MYH7 mutation |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Myasthenia gravis in remission |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
3 |
Progressive scapulohumeroperoneal distal myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
3 |
Autosomal dominant mitochondrial myopathy with exercise intolerance |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
4 |
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Intramuscular injection of human anti-D immunoglobulin |
Procedure site - Indirect |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Polyglucosan body myopathy type 2 |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
3 |
Megaconial congenital muscular dystrophy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Megaconial congenital muscular dystrophy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Hereditary continuous muscle fibre activity |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
TK2-related mitochondrial DNA depletion syndrome myopathic form |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Myopathy caused by local anaesthetic |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Adult-onset overlap myositis |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Limb girdle muscular dystrophy due to POMK deficiency |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Measurement of muscle tone |
Procedure site - Direct |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
3 |
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
3 |
Myopathic Ehlers-Danlos syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
5 |
Congenital myopathy with reduced type 2 muscle fibres |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
X-linked myotubular myopathy, abnormal genitalia syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Administration of inactivated Japanese encephalitis virus adsorbed vaccine via intramuscular route |
Procedure site - Indirect |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Intramuscular typhoid Vi capsular polysaccharide vaccination |
Procedure site - Indirect |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Intramuscular rabies vaccination |
Procedure site - Indirect |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
6 |
Antenatal multi-minicore disease with arthrogryposis multiplex congenita |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Congenital multi-minicore disease with external ophthalmoplegia |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Release of contracture of muscle |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Release of Volkmann contracture of forearm |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Release of paralytic tether |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Release of cicatricial tether |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Stretching of muscle |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Shortening of muscle of hand |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Tensing of orbicularis oculi muscle |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Shortening of muscle |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Quadricepsplasty |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Release of contracture of forearm |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Medial rectus recession and lateral rectus resection |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Recession of bilateral medial rectus muscles |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Recession of bilateral lateral rectus muscles |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Superior oblique recession |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Inferior oblique recession |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Lysis of adhesions of eye muscle |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Intramuscular infiltration of local anaesthetic and steroid |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Intramuscular infiltration of steroid |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Intramuscular infiltration of neurolytic substance |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Intramuscular infiltration of botulinum toxin |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Lateral rectus recession and medial rectus resection |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Medial rectus Faden |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Lateral rectus myotomy |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Lateral rectus marginal myotomy |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Lateral rectus Faden |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Superior rectus horizontal transposition |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Superior rectus Faden |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Inferior rectus Faden |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Superior oblique anterior transposition |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Superior oblique Harada-Ito procedure |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Superior oblique trochlear fracture and resection |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Superior oblique Faden |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Inferior oblique anterior transposition |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Inferior oblique extirpation |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Inferior oblique Faden |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Lysis of adhesions of extraocular muscle |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Myoneural disorder |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Quadricepsplasty, Bennett type |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
4 |
Quadricepsplasty, Thompson type |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
3 |
Harvesting of muscle |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Transposition of eye muscle |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |